Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PRAMEF2 65122 broad.mit.edu 37 1 12921316 12921316 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:12921316C>G uc001aum.1 + 4 1194 c.1107C>G c.(1105-1107)ATC>ATG p.I369M NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 369 LRR 2. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGTGCCATCCTGCCTGGCC 0.562 NaN 0 0 0 0.00308 0 7 187 KIAA0754 643314 broad.mit.edu 37 1 39878410 39878410 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:39878410G>C uc009vvt.1 + 1 3235 c.2473G>C c.(2473-2475)GAG>CAG p.E825Q MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 689 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACCAGTTTTAGAGGAATGGAT 0.493 NaN 0 0 0 0.009096 0 3 24 CTPS 1503 broad.mit.edu 37 1 41471729 41471729 + Missense_Mutation SNP A A G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:41471729A>G uc001cgk.3 + 13 1767 c.1259A>G c.(1258-1260)AAT>AGT p.N420S CTPS_uc010ojo.1_Missense_Mutation_p.N189S|CTPS_uc001cgl.3_Missense_Mutation_p.N420S|CTPS_uc010ojq.1_Missense_Mutation_p.N264S|CTPS_uc009vwe.2_Missense_Mutation_p.N140S NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 420 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) TCAGATGCCAATTCTACAGAG 0.408 NaN 0 0 0 0.004672 0 3 119 C8B 732 broad.mit.edu 37 1 57409489 57409489 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:57409489G>C uc001cyp.2 - 8 1181 c.1114C>G c.(1114-1116)CTT>GTT p.L372V C8B_uc010oon.1_Missense_Mutation_p.L310V|C8B_uc010ooo.1_Missense_Mutation_p.L320V NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 372 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ACGTTGTTAAGAGTATAATCT 0.443 NaN 0 0 0 0.021553 0 6 112 LRRC7 57554 broad.mit.edu 37 1 70504020 70504020 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:70504020G>A uc001dep.2 + 19 2429 c.2399G>A c.(2398-2400)AGA>AAA p.R800K LRRC7_uc009wbg.2_Missense_Mutation_p.R84K|LRRC7_uc001deq.2_Missense_Mutation_p.R41K NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 800 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCGAAATCTAGAAGCACATCT 0.488 NaN 0 0 0 0.010729 0 11 181 PSMD4 5710 broad.mit.edu 37 1 151238867 151238867 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:151238867G>C uc001exl.2 + 8 909 c.847G>C c.(847-849)GAG>CAG p.E283Q PSMD4_uc001exn.2_Missense_Mutation_p.E286Q NM_002810 NP_002801 P55036 PSMD4_HUMAN proteasome 26S non-ATPase subunit 4 283 UIM 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGTATGACTGAGGAAGAGCA 0.552 NaN 0 0 0 0.013537 0 12 99 FLG 2312 broad.mit.edu 37 1 152275618 152275618 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:152275618G>C uc001ezu.1 - 3 11780 c.11744C>G c.(11743-11745)TCT>TGT p.S3915C NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3915 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TACAGGTGAAGACTGTACATG 0.498 NaN Ichthyosis 0 0 0 0.001984 0 5 101 IQGAP3 128239 broad.mit.edu 37 1 156507074 156507074 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:156507074G>A uc001fpf.2 - 27 3396 c.3321C>T c.(3319-3321)AGC>AGT p.S1107S NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1107 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTCGGGGTGGCTCAAGGCCT 0.562 NaN 0 0 0 0.004672 0 3 36 PBX1 5087 broad.mit.edu 37 1 164761814 164761814 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:164761814G>A uc001gct.2 + 3 607 c.349G>A c.(349-351)GTG>ATG p.V117M PBX1_uc010pku.1_Missense_Mutation_p.V117M|PBX1_uc010pkv.1_Missense_Mutation_p.V34M|PBX1_uc001gcs.2_Missense_Mutation_p.V117M|PBX1_uc010pkw.1_Missense_Mutation_p.V7M NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 117 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 AGCGGAAGGCGTGGCGGGGCC 0.493 NaN T TCF3|EWSR1 pre B-ALL|myoepithelioma 0 0 0 0.004672 0 3 18 PM20D1 148811 broad.mit.edu 37 1 205819093 205819093 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:205819093C>T uc001hdj.2 - 1 153 c.108G>A c.(106-108)GCG>GCA p.A36A PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 36 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGATTCGCGACGCCCTTTGAT 0.592 NaN 0 0 0 0.014758 0 5 58 LAMB3 3914 broad.mit.edu 37 1 209789846 209789846 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:209789846C>T uc001hhg.2 - 21 3742 c.3352G>A c.(3352-3354)GAG>AAG p.E1118K LAMB3_uc009xco.2_Missense_Mutation_p.E1118K|LAMB3_uc001hhh.2_Missense_Mutation_p.E1118K NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 1118 Domain I.|Potential. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TCCATGGTCTCCCCAAACAGC 0.552 NaN 0 0 0 0.013537 0 9 183 KCNK2 3776 broad.mit.edu 37 1 215256745 215256745 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:215256745C>T uc001hkq.2 + 1 186 c.17C>T c.(16-18)TCG>TTG p.S6L KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 6 Cytoplasmic (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CCCAGCGCCTCGCGGGAGAGA 0.547 NaN 0 0 0 0.008291 0 9 79 ATAD1 84896 broad.mit.edu 37 10 89516664 89516664 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:89516664C>G uc001key.1 - 8 1130 c.847G>C c.(847-849)GAC>CAC p.D283H ATAD1_uc010qmr.1_Missense_Mutation_p.D195H|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.D283H NM_032810 NP_116199 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 283 peroxisome ATP binding|nucleoside-triphosphatase activity large_intestine(1)|ovary(1) 2 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) TCTAGCAGGTCTACATGCCTA 0.353 NaN 0 0 0 0.021553 0 6 99 MYOF 26509 broad.mit.edu 37 10 95147619 95147619 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:95147619G>A uc001kin.2 - 19 1756 c.1633C>T c.(1633-1635)CTT>TTT p.L545F MYOF_uc001kio.2_Missense_Mutation_p.L532F NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 545 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GTCTTCTCAAGAAAAGTGGCT 0.423 NaN 0 0 0 0.00308 0 6 166 ARHGAP19 84986 broad.mit.edu 37 10 99025847 99025847 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:99025847G>C uc001knb.2 - 2 121 c.92C>G c.(91-93)TCT>TGT p.S31C ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.S22C|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.S31C|ARHGAP19_uc009xvk.2_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 31 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) TCGAAGGGAAGAATCATTGCA 0.393 NaN 0 0 0 0.014758 0 5 84 CHUK 1147 broad.mit.edu 37 10 101978578 101978578 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:101978578C>T uc001kqp.2 - 8 749 c.694G>A c.(694-696)GAG>AAG p.E232K NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 232 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) TTAATCTTCTCATGCCTATAA 0.328 NaN 0 0 0 0.00308 0 8 93 OR52I2 143502 broad.mit.edu 37 11 4608745 4608745 + Missense_Mutation SNP C C T rs137965376 byFrequency TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:4608745C>T uc010qyh.1 + 1 703 c.703C>T c.(703-705)CTT>TTT p.L235F NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 235 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTTCCTCTCTTATGGTGGG 0.488 NaN 0 0 0 0.010504 0 19 257 DEPDC7 91614 broad.mit.edu 37 11 33053051 33053051 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33053051G>C uc001mub.2 + 5 1002 c.910G>C c.(910-912)GAT>CAT p.D304H DEPDC7_uc001muc.2_Missense_Mutation_p.D295H NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 304 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 ACTTCTGTTTGATGCCATTGG 0.398 NaN 0 0 0 0.024245 0 10 124 DEPDC7 91614 broad.mit.edu 37 11 33053080 33053080 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33053080G>A uc001mub.2 + 5 1031 c.939G>A c.(937-939)AGG>AGA p.R313R DEPDC7_uc001muc.2_Silent_p.R304R NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 313 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 ACAGTAGTAGGGAACCTCTGT 0.393 NaN 0 0 0 0.008291 0 7 129 DEPDC7 91614 broad.mit.edu 37 11 33054239 33054239 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33054239G>C uc001mub.2 + 7 1255 c.1163G>C c.(1162-1164)AGG>ACG p.R388T DEPDC7_uc001muc.2_Missense_Mutation_p.R379T NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 388 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 GTTGTGAAAAGGATATTCTCA 0.259 NaN 0 0 0 0.024245 0 16 106 DEPDC7 91614 broad.mit.edu 37 11 33054490 33054490 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33054490G>A uc001mub.2 + 8 1411 c.1319G>A c.(1318-1320)GGA>GAA p.G440E DEPDC7_uc001muc.2_Missense_Mutation_p.G431E NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 440 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 ATACAGAACGGAAGAGATCCA 0.318 NaN 0 0 0 0.008871 0 17 119 DEPDC7 91614 broad.mit.edu 37 11 33054924 33054924 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33054924G>A uc001mub.2 + 9 1551 c.1459G>A c.(1459-1461)GCC>ACC p.A487T DEPDC7_uc001muc.2_Missense_Mutation_p.A478T NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 487 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 AAAACTTTCTGCCAAAGAGAA 0.333 NaN 0 0 0 0.001984 0 6 140 NAT10 55226 broad.mit.edu 37 11 34139781 34139781 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:34139781C>G uc001mvk.2 + 7 856 c.612C>G c.(610-612)CTC>CTG p.L204L NAT10_uc010ren.1_Silent_p.L132L NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 204 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) ATGACCAGCTCAACATCCTGC 0.557 NaN 0 0 0 0.016723 0 10 60 PGM2L1 283209 broad.mit.edu 37 11 74056622 74056622 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:74056622C>T uc001ovb.1 - 9 1406 c.1110G>A c.(1108-1110)AAG>AAA p.K370K NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 370 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) ATTTATTTTTCTTCCAGCAAT 0.373 NaN 0 0 0 0.021553 0 5 108 MAP6 4135 broad.mit.edu 37 11 75298367 75298367 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:75298367G>C uc001owu.2 - 4 2244 c.2179C>G c.(2179-2181)CAA>GAA p.Q727E NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 727 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) GTGGGGCCTTGATCCTTAACT 0.493 NaN 0 0 0 0.01892 0 25 221 TSKU 25987 broad.mit.edu 37 11 76507357 76507357 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:76507357C>T uc001oxt.2 + 2 869 c.697C>T c.(697-699)CAC>TAC p.H233Y NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 233 LRR 8. extracellular region 0 Ovarian(111;0.112) AGGCCTTACACACCTGTCTCT 0.667 NaN 0 0 0 0.004482 0 8 112 NPAT 4863 broad.mit.edu 37 11 108043955 108043955 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:108043955C>T uc001pjz.3 - 13 1858 c.1756G>A c.(1756-1758)GAA>AAA p.E586K NPAT_uc001pka.2_Missense_Mutation_p.E381K NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 586 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) ATAACTGGTTCTAACACATTA 0.299 NaN 0 0 0 0.020292 0 14 231 EXPH5 23086 broad.mit.edu 37 11 108382830 108382830 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:108382830C>A uc001pkk.2 - 6 3515 c.3404G>T c.(3403-3405)GGA>GTA p.G1135V EXPH5_uc010rvy.1_Missense_Mutation_p.G947V|EXPH5_uc010rvz.1_Missense_Mutation_p.G979V|EXPH5_uc010rwa.1_Missense_Mutation_p.G1059V NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1135 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCCTTCTCTTCCAGTTGAGGC 0.483 NaN 1 0 7.48243e-07 0.006214 8.30922e-07 8 129 A2ML1 144568 broad.mit.edu 37 12 9020914 9020914 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:9020914C>A uc001quz.3 + 31 4120 c.4022C>A c.(4021-4023)CCG>CAG p.P1341Q A2ML1_uc001qva.1_Missense_Mutation_p.P921Q|A2ML1_uc010sgm.1_Missense_Mutation_p.P841Q|A2ML1_uc001qvb.1_RNA NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1185 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TGTGAGCAACCGACTTCACCT 0.488 NaN 1 0 1.15088e-07 0.028581 1.29233e-07 17 254 STYK1 55359 broad.mit.edu 37 12 10780303 10780303 + Silent SNP A A C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:10780303A>C uc001qys.2 - 7 1175 c.654T>G c.(652-654)GGT>GGG p.G218G NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 218 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 CATAGAGAAGACCATCCATAG 0.398 NaN HNSCC(73;0.22) 0 0 0 0.016723 0 9 72 TAS2R9 50835 broad.mit.edu 37 12 10962188 10962188 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:10962188C>G uc001qyx.2 - 1 580 c.487G>C c.(487-489)GAA>CAA p.E163Q TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 163 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 GTAATGTTTTCTTCATGACTG 0.378 NaN 0 0 0 0.016723 0 12 107 CMAS 55907 broad.mit.edu 37 12 22208488 22208488 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:22208488C>G uc001rfm.2 + 3 582 c.503C>G c.(502-504)TCT>TGT p.S168C CMAS_uc001rfn.2_RNA NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 168 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 GGATATGATTCTGTTTTCTCT 0.353 NaN 0 0 0 0.001984 0 7 114 ACVRL1 94 broad.mit.edu 37 12 52309201 52309201 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:52309201G>A uc001rzj.2 + 7 1248 c.965G>A c.(964-966)GGC>GAC p.G322D ACVRL1_uc001rzk.2_Missense_Mutation_p.G322D|ACVRL1_uc010snm.1_Missense_Mutation_p.G148D NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 322 Cytoplasmic (Potential).|Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GGTACACAGGGCAAACCAGCC 0.642 NaN Hereditary_Hemorrhagic_Telangiectasia 0 0 0 0.014758 0 3 25 GRASP 160622 broad.mit.edu 37 12 52404711 52404711 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:52404711G>C uc001rzo.1 + 3 399 c.343G>C c.(343-345)GAG>CAG p.E115Q GRASP_uc001rzp.1_5'UTR NM_181711 NP_859062 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 115 PDZ. cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.0967) CTTCGGCTTTGAGATCCAGGT 0.547 NaN 0 0 0 0.010729 0 11 134 ESPL1 9700 broad.mit.edu 37 12 53662888 53662888 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:53662888G>A uc001sck.2 + 3 253 c.162G>A c.(160-162)CTG>CTA p.L54L ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 54 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 ATGCCATCCTGAGGGCTTGCA 0.552 NaN 0 0 0 0.001984 0 6 91 NCKAP1L 3071 broad.mit.edu 37 12 54894397 54894397 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:54894397C>T uc001sgc.3 + 3 373 c.294C>T c.(292-294)GTC>GTT p.V98V NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.V48V NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 98 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TTGTGGATGTCATGGAATTTC 0.398 NaN 0 0 0 0.016723 0 13 181 NCKAP1L 3071 broad.mit.edu 37 12 54912718 54912718 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:54912718G>C uc001sgc.3 + 15 1520 c.1441G>C c.(1441-1443)GAA>CAA p.E481Q NCKAP1L_uc010sox.1_Missense_Mutation_p.E23Q|NCKAP1L_uc010soy.1_Missense_Mutation_p.E431Q NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 481 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 AGAAAAATTTGAATTCTCAGG 0.403 NaN 0 0 0 0.004482 0 8 72 C12orf66 144577 broad.mit.edu 37 12 64587993 64587993 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:64587993C>T uc001srw.3 - 3 1026 c.967G>A c.(967-969)GAG>AAG p.E323K C12orf66_uc009zql.2_Missense_Mutation_p.E270K NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 323 ovary(1) 1 TGAAAACTCTCAGAACCTCTG 0.473 NaN 0 0 0 0.016723 0 12 174 C12orf66 144577 broad.mit.edu 37 12 64588249 64588249 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:64588249C>T uc001srw.3 - 3 770 c.711G>A c.(709-711)AAG>AAA p.K237K C12orf66_uc009zql.2_Silent_p.K184K NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 237 ovary(1) 1 ACAGATGTTTCTTGGTCTCCC 0.493 NaN 0 0 0 0.004482 0 8 66 DNAH10 196385 broad.mit.edu 37 12 124362399 124362399 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:124362399C>T uc001uft.3 + 47 7987 c.7962C>T c.(7960-7962)TTC>TTT p.F2654F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2654 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATTACATCTTCAACCTTCGAG 0.443 NaN 0 0 0 0.007413 0 18 259 DNAJC3 5611 broad.mit.edu 37 13 96409943 96409943 + Nonsense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr13:96409943C>T uc001vmq.2 + 5 547 c.439C>T c.(439-441)CAA>TAA p.Q147* DNAJC3_uc001vmr.2_Intron NM_006260 NP_006251 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 147 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding 0 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) AGCACAGTCTCAACTTATAAA 0.343 NaN 0 0 0 0.004482 0 9 90 OR4K1 79544 broad.mit.edu 37 14 20404396 20404396 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:20404396G>A uc001vwj.1 + 1 571 c.571G>A c.(571-573)GAT>AAT p.D191N NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GGCTTGCATGGATACATATGA 0.443 NaN 0 0 0 0.014758 0 5 327 MIA2 117153 broad.mit.edu 37 14 39716635 39716635 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:39716635C>T uc001wux.2 + 4 1051 c.857C>T c.(856-858)TCA>TTA p.S286L MIA2_uc010amy.1_Missense_Mutation_p.S217L NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 286 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GAAATTGATTCAGTGCCAAAG 0.398 NaN 0 0 0 0.001984 0 7 91 FANCM 57697 broad.mit.edu 37 14 45658433 45658433 + Silent SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:45658433G>C uc001wwd.3 + 20 5307 c.5208G>C c.(5206-5208)CTG>CTC p.L1736L FANCM_uc010anf.2_Silent_p.L1710L|FANCM_uc001wwe.3_Silent_p.L1272L|FANCM_uc010ang.2_Silent_p.L950L NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1736 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AGACATCGCTGAATTTAAAGG 0.418 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.010504 0 19 237 POLE2 5427 broad.mit.edu 37 14 50118050 50118050 + Silent SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:50118050T>C uc001wwu.2 - 16 1271 c.1257A>G c.(1255-1257)TTA>TTG p.L419L SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.L133L|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.L134L NM_002692 NP_002683 P56282 DPOE2_HUMAN DNA-directed DNA polymerase epsilon 2 419 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity ovary(1)|skin(1) 2 all_epithelial(31;0.0021)|Breast(41;0.0124) TTTTATTTACTAAGTCTTCAC 0.323 NaN 0 0 0 0.021553 0 5 66 PLEKHG3 26030 broad.mit.edu 37 14 65198166 65198166 + Missense_Mutation SNP C C T rs145887123 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:65198166C>T uc001xho.1 + 8 1206 c.937C>T c.(937-939)CGC>TGC p.R313C PLEKHG3_uc001xhn.1_Missense_Mutation_p.R257C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R313C|PLEKHG3_uc010aqh.1_5'UTR NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 313 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CCGCGTGCATCGCGTGCGCAA 0.552 NaN 0 0 0 0.014758 0 5 67 NUDT14 256281 broad.mit.edu 37 14 105639498 105639498 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:105639498C>T uc010tyn.1 - 5 643 c.529G>A c.(529-531)GAG>AAG p.E177K NUDT14_uc001yqi.2_RNA NM_177533 NP_803877 O95848 NUD14_HUMAN nudix-type motif 14 177 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity skin(1) 1 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TCAATGAGCTCACCCTCCTCC 0.622 NaN HNSCC(42;0.11) 0 0 0 0.009096 0 4 34 CEP152 22995 broad.mit.edu 37 15 49076285 49076285 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:49076285C>T uc001zwy.2 - 10 1240 c.1206G>A c.(1204-1206)GTG>GTA p.V402V CEP152_uc001zwz.2_Silent_p.V402V|CEP152_uc001zxa.1_Silent_p.V309V NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 402 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CCAGTTGTTTCACGTGATCTT 0.333 NaN 0 0 0 0.021553 0 5 66 ZNF609 23060 broad.mit.edu 37 15 64968069 64968069 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:64968069G>A uc002ann.2 + 4 3016 c.3016G>A c.(3016-3018)GAA>AAA p.E1006K NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 1006 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GCAGCAGTACGAAGAACAGCA 0.562 NaN 0 0 0 0.014758 0 4 115 CORO2B 10391 broad.mit.edu 37 15 69018260 69018260 + Missense_Mutation SNP C C T rs146678597 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:69018260C>T uc002arj.3 + 12 1419 c.1390C>T c.(1390-1392)CGG>TGG p.R464W CORO2B_uc010bic.2_Missense_Mutation_p.R459W|CORO2B_uc002ark.2_Missense_Mutation_p.R231W NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 464 Potential. actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 CATCCGCATTCGGCAGCTCCA 0.557 NaN 0 0 0 0.009096 0 4 52 RLBP1 6017 broad.mit.edu 37 15 89758326 89758326 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:89758326C>G uc002bnl.2 - 6 870 c.490G>C c.(490-492)GAG>CAG p.E164Q NM_000326 NP_000317 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 164 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1) 1 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) TGCCAGTTCTCAATGTTGAAG 0.577 NaN 0 0 0 0.00308 0 7 121 GLYR1 84656 broad.mit.edu 37 16 4882060 4882060 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:4882060C>T uc002cxx.3 - 5 494 c.457G>A c.(457-459)GAG>AAG p.E153K GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.E84K|GLYR1_uc002cya.2_Missense_Mutation_p.E153K|GLYR1_uc010uxv.1_Intron NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 153 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 GAGCCTCTCTCTGAAGAGCCT 0.527 NaN 0 0 0 0.010729 0 11 191 ADAT1 23536 broad.mit.edu 37 16 75654613 75654613 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:75654613G>A uc002feo.1 - 3 187 c.85C>T c.(85-87)CAT>TAT p.H29Y ADAT1_uc002fep.1_5'UTR NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 29 tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 GTCCACTCATGGTTTGGCTCA 0.522 NaN 0 0 0 0.021553 0 6 67 KARS 3735 broad.mit.edu 37 16 75669620 75669620 + Silent SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:75669620G>T uc002feq.2 - 6 801 c.753C>A c.(751-753)ATC>ATA p.I251I KARS_uc002fer.2_Silent_p.I279I|KARS_uc002fes.2_Silent_p.I95I|KARS_uc010cgz.2_Silent_p.I95I NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 251 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) TTATATATGTGATGATCTTAG 0.443 NaN 1 0 7.48243e-07 0.006214 8.30922e-07 9 81 KARS 3735 broad.mit.edu 37 16 75669626 75669626 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:75669626C>G uc002feq.2 - 6 795 c.747G>C c.(745-747)AAG>AAC p.K249N KARS_uc002fer.2_Missense_Mutation_p.K277N|KARS_uc002fes.2_Missense_Mutation_p.K93N|KARS_uc010cgz.2_Missense_Mutation_p.K93N NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 249 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) ATGTGATGATCTTAGAGCGGA 0.433 NaN 0 0 0 0.006214 0 9 88 TAF1C 9013 broad.mit.edu 37 16 84214979 84214979 + Silent SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:84214979C>A uc002fhn.2 - 10 1425 c.1197G>T c.(1195-1197)GTG>GTT p.V399V TAF1C_uc002fhm.2_Silent_p.V306V|TAF1C_uc010vnx.1_Silent_p.V373V|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Silent_p.V67V|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Silent_p.V67V|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 399 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 CCACGGTCAGCACCCGAGGGT 0.667 NaN 1 0 0.00116845 0.021553 0.00126267 6 12 KCTD11 147040 broad.mit.edu 37 17 7256592 7256592 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:7256592C>G uc002gge.3 + 1 1385 c.331C>G c.(331-333)CAC>GAC p.H111D TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN potassium channel tetramerisation domain 111 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Prostate(122;0.157) GGGACCCCATCACTATGAGCT 0.632 NaN 0 0 0 0.001984 0 6 59 PFAS 5198 broad.mit.edu 37 17 8168266 8168266 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:8168266G>A uc002gkr.2 + 18 2244 c.2103G>A c.(2101-2103)CTG>CTA p.L701L PFAS_uc010vuv.1_Silent_p.L277L|PFAS_uc002gks.2_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 701 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGGGGCCCCTGCAAACTCCTC 0.632 NaN 0 0 0 0.004672 0 3 8 CCL23 6368 broad.mit.edu 37 17 34344932 34344932 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:34344932C>T uc002hkt.1 - 1 74 c.3G>A c.(1-3)ATG>ATA p.M1I CCL23_uc002hks.1_Missense_Mutation_p.M1I NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 1 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CGGAGACCTTCATCCTCCTGG 0.577 NaN 0 0 0 0.014758 0 4 28 LRRC46 90506 broad.mit.edu 37 17 45912735 45912735 + Missense_Mutation SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:45912735T>C uc002ima.2 + 4 498 c.242T>C c.(241-243)ATT>ACT p.I81T LRRC46_uc002imb.2_Missense_Mutation_p.I34T NM_033413 NP_219481 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 81 LRR 2. ovary(1) 1 ATCCAGCAAATTGAGAACCTG 0.547 NaN 0 0 0 0.016522 0 21 195 LRRC46 90506 broad.mit.edu 37 17 45913412 45913412 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:45913412G>A uc002ima.2 + 6 652 c.396G>A c.(394-396)CAG>CAA p.Q132Q LRRC46_uc002imb.2_Silent_p.Q85Q NM_033413 NP_219481 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 132 LRR 4. ovary(1) 1 AGTTCCCCCAGAGCCTTCTCA 0.453 NaN 0 0 0 0.001984 0 7 58 MSI2 124540 broad.mit.edu 37 17 55674294 55674294 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:55674294G>A uc002iuz.1 + 8 693 c.520G>A c.(520-522)GAA>AAA p.E174K MSI2_uc010wnm.1_Missense_Mutation_p.E152K|MSI2_uc002iva.2_Missense_Mutation_p.E170K NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN musashi 2 isoform a 174 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|pancreas(1) 2 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) TCATTTCCATGAAATCAATAA 0.418 NaN T HOXA9 CML 0 0 0 0.014758 0 5 113 PPM1E 22843 broad.mit.edu 37 17 57058003 57058003 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:57058003C>A uc002iwx.2 + 7 2006 c.1879C>A c.(1879-1881)CCC>ACC p.P627T PPM1E_uc010ddd.2_Missense_Mutation_p.P390T NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 636 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) TGGAGAGTTTCCCACTGCTTT 0.428 NaN 1 0 0.000274275 0.004482 0.000301253 9 260 MED13 9969 broad.mit.edu 37 17 60028354 60028354 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:60028354C>G uc002izo.2 - 28 6200 c.6123G>C c.(6121-6123)CAG>CAC p.Q2041H NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2041 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GATCAGTACTCTGACCCTTAA 0.373 NaN 0 0 0 0.004482 0 7 98 HELZ 9931 broad.mit.edu 37 17 65162678 65162678 + Missense_Mutation SNP T T A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:65162678T>A uc010wqk.1 - 15 1998 c.1811A>T c.(1810-1812)CAC>CTC p.H604L HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.H604L NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TAGTGCATAGTGCATTTCACA 0.393 NaN 0 0 0 0.00308 0 7 154 BPTF 2186 broad.mit.edu 37 17 65889808 65889808 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:65889808C>T uc002jgf.2 + 6 2439 c.2378C>T c.(2377-2379)TCA>TTA p.S793L BPTF_uc002jge.2_Missense_Mutation_p.S919L|BPTF_uc010wqm.1_Missense_Mutation_p.S856L NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 919 Interaction with MAZ. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AACATCCCTTCATCCTTTCTT 0.368 NaN 0 0 0 0.021553 0 4 93 HGS 9146 broad.mit.edu 37 17 79660899 79660899 + Splice_Site SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:79660899G>T uc002kbg.2 + 11 918 c.841_splice c.e11-1 p.R281_splice NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TTCTGCCTCAGAGACAGAAGT 0.677 NaN 1 0 0.00909568 0.009096 0.00972464 4 38 RNF125 54941 broad.mit.edu 37 18 29617078 29617078 + Splice_Site SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr18:29617078G>T uc002kxf.1 + 2 547 c.165_splice c.e2-1 p.V55_splice NM_017831 NP_060301 Q96EQ8 RN125_HUMAN ring finger protein 125 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding 0 GTTTGGGGTAGATTCTGCCGT 0.418 NaN 1 0 1.55469e-16 0.01892 1.7655e-16 23 371 ZFR2 23217 broad.mit.edu 37 19 3819052 3819052 + Missense_Mutation SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:3819052T>C uc002lyw.2 - 12 1934 c.1922A>G c.(1921-1923)GAC>GGC p.D641G NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 641 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) CCTGCGCTTGTCACCCTCTTC 0.682 NaN 0 0 0 0.004672 0 2 6 ZNF358 140467 broad.mit.edu 37 19 7584139 7584139 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:7584139C>T uc002mgn.2 + 2 181 c.11C>T c.(10-12)TCA>TTA p.S4L NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 4 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 ATGCGGCGCTCAGTCCTGGTC 0.597 NaN 0 0 0 0.021553 0 6 81 ZNF491 126069 broad.mit.edu 37 19 11916920 11916920 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:11916920C>T uc002mso.1 + 3 437 c.152C>T c.(151-153)TCC>TTC p.S51F NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 51 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GGATATTCATCCTTTAATAGG 0.393 NaN 0 0 0 0.00308 0 6 111 COPE 11316 broad.mit.edu 37 19 19021838 19021838 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:19021838C>T uc002nkk.2 - 3 274 c.232G>A c.(232-234)GCC>ACC p.A78T COPE_uc002nkl.2_Missense_Mutation_p.A78T|COPE_uc002nkm.2_Missense_Mutation_p.A78T|COPE_uc002nkn.2_Missense_Mutation_p.A78T|HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_Intron NM_007263 NP_009194 O14579 COPE_HUMAN epsilon subunit of coatomer protein complex 78 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol binding|structural molecule activity 0 AGCTCAGGGGCCGAGGAGGGC 0.632 NaN 0 0 0 0.004482 0 9 156 ZNF429 353088 broad.mit.edu 37 19 21720336 21720336 + Nonsense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:21720336C>G uc002nqd.1 + 4 1618 c.1481C>G c.(1480-1482)TCA>TGA p.S494* ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 494 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AAGCAGTCCTCAAACCTTAAC 0.398 NaN 0 0 0 0.004482 0 9 59 ZNF429 353088 broad.mit.edu 37 19 21720683 21720683 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:21720683C>G uc002nqd.1 + 4 1965 c.1828C>G c.(1828-1830)CAA>GAA p.Q610E ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 610 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AAGACTTACTCAACATAAGAA 0.358 NaN 0 0 0 0.001984 0 7 99 ERF 2077 broad.mit.edu 37 19 42754675 42754675 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:42754675G>C uc002ote.3 - 2 223 c.65C>G c.(64-66)CCT>CGT p.P22R ERF_uc002otd.3_5'UTR NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 22 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) CCTTGAGCCAGGGGACGACTC 0.642 NaN 0 0 0 0.009096 0 4 37 ZNF615 284370 broad.mit.edu 37 19 52496411 52496411 + Missense_Mutation SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:52496411T>C uc002pye.1 - 6 2210 c.1918A>G c.(1918-1920)ATA>GTA p.I640V ZNF615_uc002pyf.1_Missense_Mutation_p.I651V|ZNF615_uc002pyg.1_Missense_Mutation_p.I532V|ZNF615_uc002pyh.1_Missense_Mutation_p.I651V|ZNF615_uc010epi.1_Missense_Mutation_p.I647V|ZNF615_uc010ydg.1_Missense_Mutation_p.I645V NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 640 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGATGTTGTATGAGGCATGTC 0.378 NaN 0 0 0 0.024245 0 16 308 NCR1 9437 broad.mit.edu 37 19 55420628 55420628 + Missense_Mutation SNP C C T rs142626797 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:55420628C>T uc002qib.2 + 4 418 c.380C>T c.(379-381)TCG>TTG p.S127L NCR1_uc002qic.2_Missense_Mutation_p.S127L|NCR1_uc002qie.2_Missense_Mutation_p.S127L|NCR1_uc002qid.2_Missense_Mutation_p.S32L|NCR1_uc002qif.2_Missense_Mutation_p.S32L|NCR1_uc010esj.2_Missense_Mutation_p.S20L NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 127 Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) CCCACCCTCTCGGTTCATCCT 0.468 NaN 0 0 0 0.021553 0 5 88 UGP2 7360 broad.mit.edu 37 2 64114722 64114722 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:64114722G>A uc002scm.2 + 8 1564 c.1258G>A c.(1258-1260)GAA>AAA p.E420K UGP2_uc002scl.2_Missense_Mutation_p.E409K|UGP2_uc010ypx.1_Missense_Mutation_p.E429K NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 420 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 GACAATGAGTGAAAAGCGGGA 0.403 NaN 0 0 0 0.010729 0 12 195 VPS54 51542 broad.mit.edu 37 2 64208891 64208891 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:64208891G>A uc002scq.2 - 3 430 c.267C>T c.(265-267)TTC>TTT p.F89F VPS54_uc002scp.2_Silent_p.F77F NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 89 protein transport|retrograde transport, endosome to Golgi 0 TTTTTGTGAAGAAGTCAGATT 0.388 NaN 0 0 0 0.012319 0 22 269 CCDC142 84865 broad.mit.edu 37 2 74709847 74709847 + Missense_Mutation SNP G G A rs143866681 byFrequency TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:74709847G>A uc002slr.2 - 1 511 c.118C>T c.(118-120)CGC>TGC p.R40C TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.R40C|CCDC142_uc002slp.2_Missense_Mutation_p.R40C NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 40 central_nervous_system(1) 1 ACCTCCCAGCGAAGACCGCCC 0.682 NaN 0 0 0 0.004482 0 8 62 C2orf51 200523 broad.mit.edu 37 2 88828645 88828645 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:88828645G>C uc002stb.1 + 4 338 c.196G>C c.(196-198)GAT>CAT p.D66H NM_152670 NP_689883 Q96LM6 TSC21_HUMAN chromosome 2 open reading frame 51 66 nucleus skin(1) 1 CAAGCTAACAGATGGGTACCC 0.532 NaN 0 0 0 0.004482 0 8 84 BUB1 699 broad.mit.edu 37 2 111427076 111427076 + Nonsense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:111427076G>C uc002tgc.2 - 6 633 c.521C>G c.(520-522)TCA>TGA p.S174* BUB1_uc010yxh.1_Nonsense_Mutation_p.S154*|BUB1_uc010fkb.2_Nonsense_Mutation_p.S174*|BUB1_uc002tgd.2_Nonsense_Mutation_p.S174* NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 174 BUB1 N-terminal. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATTTGATTTTGATGTTATCAT 0.358 NaN 0 0 0 0.009096 0 4 116 SCTR 6344 broad.mit.edu 37 2 120197742 120197742 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:120197742G>A uc002tma.2 - 13 1500 c.1274C>T c.(1273-1275)GCC>GTC p.A425V SCTR_uc002tlz.2_Missense_Mutation_p.A247V NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 425 Cytoplasmic (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) CAAGTGGCTGGCCTTGGTGCT 0.627 NaN 0 0 0 0.014758 0 5 24 ARHGEF4 50649 broad.mit.edu 37 2 131799455 131799455 + Missense_Mutation SNP A A C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:131799455A>C uc002tsa.1 + 10 1925 c.1405A>C c.(1405-1407)AAG>CAG p.K469Q ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.K469Q|ARHGEF4_uc010fmx.1_Missense_Mutation_p.K409Q|ARHGEF4_uc002tsc.1_Missense_Mutation_p.K12Q NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 469 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CAACGAGCGGAAGCGGAGACT 0.562 NaN 0 0 0 0.004672 0 3 58 YSK4 80122 broad.mit.edu 37 2 135739074 135739074 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:135739074G>A uc002tue.1 - 9 3268 c.3237C>T c.(3235-3237)CTC>CTT p.L1079L YSK4_uc002tuf.1_Silent_p.L261L|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.L966L|YSK4_uc010zbg.1_Silent_p.L211L|YSK4_uc002tuh.3_Silent_p.L807L|YSK4_uc002tui.3_Missense_Mutation_p.S1147L NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1079 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CTTGACTAGTGAGACCACAGT 0.368 NaN 0 0 0 0.001984 0 7 199 LRP1B 53353 broad.mit.edu 37 2 141641540 141641540 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:141641540C>T uc002tvj.1 - 25 4987 c.4015G>A c.(4015-4017)GGC>AGC p.G1339S LRP1B_uc010fnl.1_Missense_Mutation_p.G521S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1339 Extracellular (Potential).|LDL-receptor class B 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTGTCAGGCCTTCTGGAGTA 0.468 NaN TSP Lung(27;0.18) 0 0 0 0.024245 0 16 131 SLC4A10 57282 broad.mit.edu 37 2 162751249 162751249 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:162751249G>C uc002ubx.3 + 11 1439 c.1255G>C c.(1255-1257)GAG>CAG p.E419Q SLC4A10_uc010fpa.1_Missense_Mutation_p.E431Q|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.E389Q|SLC4A10_uc010zcs.1_Missense_Mutation_p.E400Q NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 419 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 AGGAATTGATGAGTTTCTGGA 0.343 NaN 0 0 0 0.006214 0 8 94 FASTKD1 79675 broad.mit.edu 37 2 170416964 170416964 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:170416964G>A uc002uev.3 - 5 1292 c.904C>T c.(904-906)CAT>TAT p.H302Y FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.H288Y|FASTKD1_uc002uey.2_Missense_Mutation_p.H265Y NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 302 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 CTAGCAGGATGATTACACAGA 0.299 NaN 0 0 0 0.008871 0 18 239 FASTKD1 79675 broad.mit.edu 37 2 170417266 170417266 + Missense_Mutation SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:170417266G>T uc002uev.3 - 5 990 c.602C>A c.(601-603)TCT>TAT p.S201Y FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.S187Y|FASTKD1_uc002uey.2_Missense_Mutation_p.S164Y NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 201 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TATTAAAGAAGATATGTTGAC 0.294 NaN 1 0 0.000602214 0.014758 0.000654298 4 48 METTL8 79828 broad.mit.edu 37 2 172195788 172195788 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:172195788G>A uc010zdo.1 - 4 653 c.512C>T c.(511-513)TCT>TTT p.S171F METTL8_uc002ugu.3_Missense_Mutation_p.S171F|METTL8_uc002ugv.3_Missense_Mutation_p.S171F|METTL8_uc002ugt.3_Missense_Mutation_p.S171F|METTL8_uc002ugs.3_Missense_Mutation_p.S121F|METTL8_uc010zdp.1_Missense_Mutation_p.S126F NM_024770 NP_079046 B3KW44 B3KW44_HUMAN methyltransferase like 8 171 methyltransferase activity ovary(1) 1 GGAAAAATCAGATTCTGTTTT 0.383 NaN 0 0 0 0.020292 0 14 269 MAP2 4133 broad.mit.edu 37 2 210560016 210560016 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:210560016C>T uc002vde.1 + 7 3370 c.3122C>T c.(3121-3123)GCT>GTT p.A1041V MAP2_uc002vdc.1_Missense_Mutation_p.A1041V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1037V NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1041 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTGGATTTTGCTGTCCAGGGT 0.443 NaN 0 0 0 0.014758 0 5 101 SPHKAP 80309 broad.mit.edu 37 2 228883236 228883236 + Missense_Mutation SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:228883236G>T uc002vpq.2 - 7 2381 c.2334C>A c.(2332-2334)CAC>CAA p.H778Q SPHKAP_uc002vpp.2_Missense_Mutation_p.H778Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.H778Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 778 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GACTCGTGTTGTGTGAATTGC 0.512 NaN 1 0 1.80694e-10 0.009535 2.04043e-10 30 451 NTSR1 4923 broad.mit.edu 37 20 61391508 61391508 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr20:61391508C>G uc002ydf.2 + 4 1517 c.1146C>G c.(1144-1146)CTC>CTG p.L382L NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 382 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TGGCCTGCCTCTGCCCGGTGT 0.627 NaN 0 0 0 0.00308 0 3 57 SUN2 25777 broad.mit.edu 37 22 39141785 39141785 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr22:39141785C>T uc003awh.1 - 9 1001 c.717G>A c.(715-717)CAG>CAA p.Q239Q SUN2_uc011anz.1_Silent_p.Q274Q|SUN2_uc011aoa.1_Silent_p.Q228Q|SUN2_uc003awi.1_Silent_p.Q239Q|SUN2_uc010gxq.1_Silent_p.Q260Q|SUN2_uc010gxr.1_Silent_p.Q239Q|SUN2_uc010gxs.1_Silent_p.Q239Q NM_015374 NP_056189 Q9UH99 SUN2_HUMAN unc-84 homolog B 239 Perinuclear space. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding large_intestine(1)|skin(1) 2 GGTGGAATGTCTGCAGCCCAT 0.617 NaN 0 0 0 0.009096 0 4 38 CCDC134 79879 broad.mit.edu 37 22 42209814 42209814 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr22:42209814C>T uc003bbh.1 + 6 661 c.552C>T c.(550-552)ATC>ATT p.I184I WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron NM_024821 NP_079097 Q9H6E4 CC134_HUMAN coiled-coil domain containing 134 precursor 184 extracellular region ovary(2) 2 CATTTAAAATCGACCGCACAG 0.567 NaN 0 0 0 0.014758 0 4 86 XYLB 9942 broad.mit.edu 37 3 38404477 38404477 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:38404477C>T uc003cic.2 + 4 369 c.260C>T c.(259-261)TCT>TTT p.S87F XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.S9F NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 87 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TTCGACTTCTCTCAAGTCCTA 0.522 NaN 0 0 0 0.014758 0 4 119 ZNF502 91392 broad.mit.edu 37 3 44763393 44763393 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:44763393C>G uc011baa.1 + 4 1339 c.1084C>G c.(1084-1086)CAG>GAG p.Q362E ZNF502_uc003cns.2_Missense_Mutation_p.Q362E|ZNF502_uc011bab.1_Missense_Mutation_p.Q362E|ZNF502_uc003cnt.2_Missense_Mutation_p.Q362E NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 362 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AGCCTTTTGTCAGAGCCCATC 0.408 NaN 0 0 0 0.001984 0 7 72 PRSS45 377047 broad.mit.edu 37 3 46783844 46783844 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:46783844G>A uc010hjl.2 - 4 683 c.683C>T c.(682-684)TCC>TTC p.S228F PRSS45_uc011bam.1_RNA NM_199183 NP_954652 Q7RTY3 PRS45_HUMAN testis serine protease 5 260 proteolysis serine-type endopeptidase activity 0 GGGAGGTCAGGAGCCCATCTG 0.552 NaN 0 0 0 0.00308 0 7 168 PVRL3 25945 broad.mit.edu 37 3 110845149 110845149 + Nonsense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:110845149C>T uc003dxt.1 + 5 1036 c.1036C>T c.(1036-1038)CAA>TAA p.Q346* PVRL3_uc003dxu.1_Nonsense_Mutation_p.Q323* NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 346 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 TTCCCTTGGTCAAAGAAGTGA 0.313 NaN 0 0 0 0.021553 0 5 62 MUC13 56667 broad.mit.edu 37 3 124646827 124646827 + Silent SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:124646827T>C uc003ehq.1 - 2 87 c.63A>G c.(61-63)CAA>CAG p.Q21Q NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 21 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 CTGAGTTGCCTTGGTTGGTGG 0.418 NaN 0 0 0 0.004672 0 3 140 SLC41A3 54946 broad.mit.edu 37 3 125726027 125726027 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:125726027C>T uc003eij.2 - 11 1522 c.1296G>A c.(1294-1296)CTG>CTA p.L432L SLC41A3_uc003eii.2_Silent_p.L406L|SLC41A3_uc003eil.2_Silent_p.L432L|SLC41A3_uc003eik.2_Silent_p.L396L|SLC41A3_uc011bkh.1_Silent_p.L315L NM_001008485 NP_001008485 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 isoform 1 432 integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(114;0.167) GGTGCCAAGTCAGCCGAACCA 0.547 NaN 0 0 0 0.014758 0 4 46 DNAJC13 23317 broad.mit.edu 37 3 132166277 132166277 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:132166277C>T uc003eor.2 + 4 322 c.257C>T c.(256-258)TCT>TTT p.S86F DNAJC13_uc010htq.1_Missense_Mutation_p.S86F NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 86 heat shock protein binding ovary(1)|breast(1) 2 TTAAAATTTTCTACAGAGCAC 0.353 NaN 0 0 0 0.021553 0 5 83 CHST2 9435 broad.mit.edu 37 3 142840871 142840871 + Missense_Mutation SNP A A G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:142840871A>G uc003evm.2 + 2 2102 c.1213A>G c.(1213-1215)ACG>GCG p.T405A NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 405 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 TATGGCTAAGACGCTGCAGAC 0.652 NaN 0 0 0 0.009096 0 4 63 LAMP3 27074 broad.mit.edu 37 3 182853541 182853541 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:182853541G>C uc003flh.3 - 5 1305 c.1081C>G c.(1081-1083)CAA>GAA p.Q361E NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 361 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TCAAAGGCTTGAAGTTGGACA 0.478 NaN 0 0 0 0.021523 0 26 297 HRG 3273 broad.mit.edu 37 3 186383944 186383944 + Nonsense_Mutation SNP C C T rs146244921 by1000genomes TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:186383944C>T uc003fqq.2 + 1 147 c.124C>T c.(124-126)CGA>TGA p.R42* NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 42 Cystatin 1.|Interaction with ATP5A1. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CAATAAAAGGCGACGGGATGG 0.512 NaN 0 0 0 0.004482 0 9 82 TNK2 10188 broad.mit.edu 37 3 195593873 195593873 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:195593873G>A uc003fvu.1 - 14 3540 c.2997C>T c.(2995-2997)TTC>TTT p.F999F TNK2_uc003fvq.1_Silent_p.F408F|TNK2_uc003fvr.1_Silent_p.F526F|TNK2_uc003fvs.1_Silent_p.F1001F|TNK2_uc003fvt.1_Silent_p.F1047F NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 999 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GACCCAGCCCGAAGAGCTGCT 0.697 NaN 0 0 0 0.009096 0 3 21 IQCG 84223 broad.mit.edu 37 3 197665561 197665561 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:197665561C>T uc003fyo.2 - 4 519 c.373G>A c.(373-375)GAG>AAG p.E125K IQCG_uc003fyn.2_Missense_Mutation_p.E27K|IQCG_uc003fyp.2_Missense_Mutation_p.E125K|IQCG_uc003fyq.3_Missense_Mutation_p.E125K NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 125 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GGTCCTTCCTCAGTTATTAAC 0.413 NaN 0 0 0 0.019004 0 33 497 DGKQ 1609 broad.mit.edu 37 4 954890 954890 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:954890C>T uc003gbw.2 - 22 2748 c.2674G>A c.(2674-2676)GAG>AAG p.E892K DGKQ_uc010ibn.2_Missense_Mutation_p.E879K NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 892 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACCCAGGGCTCCCCGTCCACC 0.692 NaN 0 0 0 0.009096 0 4 28 TBC1D1 23216 broad.mit.edu 37 4 37903928 37903928 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:37903928C>T uc003gtb.2 + 2 555 c.212C>T c.(211-213)TCT>TTT p.S71F TBC1D1_uc011byd.1_Missense_Mutation_p.S71F|TBC1D1_uc010ifd.2_Missense_Mutation_p.S71F NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 71 nucleus Rab GTPase activator activity ovary(1) 1 GTTTCACCCTCTGGACTGAGA 0.547 NaN 0 0 0 0.001984 0 6 168 LRRC66 339977 broad.mit.edu 37 4 52860928 52860928 + Missense_Mutation SNP C C T rs76998469 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:52860928C>T uc003gzi.2 - 4 2273 c.2260G>A c.(2260-2262)GAG>AAG p.E754K NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 754 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 ACATTTTCCTCAAGACTGTCT 0.483 NaN 0 0 0 0.00308 0 7 120 KDR 3791 broad.mit.edu 37 4 55961744 55961744 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:55961744C>T uc003has.2 - 20 3119 c.2817G>A c.(2815-2817)AAG>AAA p.K939K KDR_uc003hat.1_Silent_p.K939K NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 939 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GATGACATACCTTGTAGGGGA 0.413 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 0.004482 0 8 99 FRAS1 80144 broad.mit.edu 37 4 79294005 79294005 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:79294005C>G uc003hlb.2 + 24 3443 c.3003C>G c.(3001-3003)CTC>CTG p.L1001L FRAS1_uc003hkw.2_Silent_p.L1001L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1001 FU 13.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ACTCGGGCCTCTGCAAGAGTA 0.537 NaN 0 0 0 0.006214 0 8 86 SMARCAD1 56916 broad.mit.edu 37 4 95129666 95129666 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:95129666G>A uc003htc.3 + 2 376 c.121G>A c.(121-123)GAA>AAA p.E41K SMARCAD1_uc003htb.3_Missense_Mutation_p.E41K|SMARCAD1_uc003htd.3_Missense_Mutation_p.E41K|SMARCAD1_uc010ila.2_5'UTR NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 41 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TCTTAGTGCTGAAGAGGAGAA 0.438 NaN 0 0 0 0.006214 0 7 127 KIAA1109 84162 broad.mit.edu 37 4 123166210 123166210 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:123166210G>A uc003ieh.2 + 30 4997 c.4952G>A c.(4951-4953)CGA>CAA p.R1651Q KIAA1109_uc003iek.2_Missense_Mutation_p.R270Q NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1651 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GCTAGTACCCGACATCCAGCT 0.343 NaN 0 0 0 0.00308 0 8 192 ARHGAP10 79658 broad.mit.edu 37 4 148743974 148743974 + Splice_Site SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:148743974G>A uc003ilf.2 + 2 250 c.250_splice c.e2+1 p.D84_splice ARHGAP10_uc003ile.1_Splice_Site_p.D84_splice NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CGATGCATAGGTAATTAAACA 0.393 NaN 0 0 0 0.009096 0 4 152 DCLK2 166614 broad.mit.edu 37 4 151023764 151023764 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:151023764G>A uc003ilm.3 + 2 656 c.556G>A c.(556-558)GAA>AAA p.E186K DCLK2_uc003iln.3_Missense_Mutation_p.E186K|DCLK2_uc003ilo.3_Missense_Mutation_p.E186K|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 186 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) TGTGAAAAGTGAAGTAAAAGA 0.428 NaN 0 0 0 0.008291 0 10 53 F2R 2149 broad.mit.edu 37 5 76028929 76028929 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr5:76028929C>G uc003ken.3 + 2 1144 c.879C>G c.(877-879)ATC>ATG p.I293M NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 293 Cytoplasmic (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity p.I293I(1) ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) ATGTGTCTATCATTCGATGTC 0.483 NaN 0 0 0 0.00308 0 8 137 FAT2 2196 broad.mit.edu 37 5 150920280 150920280 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr5:150920280C>G uc003lue.3 - 10 8900 c.8887G>C c.(8887-8889)GAG>CAG p.E2963Q GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2963 Extracellular (Potential).|Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCCTCCACTCATCTCCAACT 0.527 NaN 0 0 0 0.009096 0 4 69 BNIP1 662 broad.mit.edu 37 5 172571562 172571562 + Missense_Mutation SNP A A C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr5:172571562A>C uc003mcj.3 + 1 118 c.14A>C c.(13-15)CAA>CCA p.Q5P BNIP1_uc003mci.3_Missense_Mutation_p.Q5P|BNIP1_uc003mck.3_Missense_Mutation_p.Q5P|BNIP1_uc003mcl.3_Missense_Mutation_p.Q5P NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 5 Cytoplasmic (Potential). anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCGGCTCCCCAAGACGTCCAC 0.607 NaN OREG0017054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 4 12 ZKSCAN3 80317 broad.mit.edu 37 6 28333833 28333833 + Nonsense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:28333833G>A uc003nle.3 + 6 1604 c.1388G>A c.(1387-1389)TGG>TAG p.W463* ZKSCAN3_uc010jrc.2_Nonsense_Mutation_p.W463*|ZKSCAN3_uc003nlf.3_Nonsense_Mutation_p.W315*|uc010jrd.2_5'Flank NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 463 QGEAWKSRMESQLENVETPMS -> TGRGWKVGWKASWKML KLPCP (in Ref. 5; AAB16813). positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 GGAGAGGCCTGGAAAAGTAGG 0.433 NaN 0 0 0 0.021553 0 5 60 MDC1 9656 broad.mit.edu 37 6 30670531 30670531 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:30670531C>T uc003nrg.3 - 13 6429 c.5989G>A c.(5989-5991)GAG>AAG p.E1997K MDC1_uc003nrf.3_Missense_Mutation_p.E628K NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1997 Required for nuclear localization (NLS2).|BRCT 2. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CCTCTCACCTCTAGCAGCCTT 0.512 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.020292 0 13 196 C6orf27 80737 broad.mit.edu 37 6 31734536 31734536 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:31734536G>C uc011dog.1 - 14 2126 c.1888C>G c.(1888-1890)CAG>GAG p.Q630E C6orf27_uc003nxd.2_Missense_Mutation_p.Q305E NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 630 extracellular region ovary(3) 3 AGCTGGGTCTGAAGACCTGGG 0.493 NaN 0 0 0 0.009096 0 4 52 C6orf27 80737 broad.mit.edu 37 6 31735227 31735227 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:31735227G>C uc011dog.1 - 12 1939 c.1701C>G c.(1699-1701)TTC>TTG p.F567L C6orf27_uc003nxd.2_Missense_Mutation_p.F242L NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 567 extracellular region ovary(3) 3 TCACCATCCAGAACTGCCCAA 0.602 NaN 0 0 0 0.004482 0 6 108 TCP11 6954 broad.mit.edu 37 6 35088708 35088708 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:35088708C>T uc003okd.2 - 6 913 c.732G>A c.(730-732)CAG>CAA p.Q244Q TCP11_uc003ojz.1_Silent_p.Q169Q|TCP11_uc003oka.2_Silent_p.Q169Q|TCP11_uc003okb.2_Silent_p.Q168Q|TCP11_uc003okc.2_Silent_p.Q168Q|TCP11_uc011dsu.1_Silent_p.Q226Q|TCP11_uc011dsv.1_Silent_p.Q193Q|TCP11_uc011dsw.1_Silent_p.Q198Q NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 231 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 TGAGGAGTTCCTGGAATTTAG 0.443 NaN 0 0 0 0.01441 0 45 534 ABCC10 89845 broad.mit.edu 37 6 43400436 43400436 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:43400436G>A uc003ouy.1 + 3 933 c.718G>A c.(718-720)GAG>AAG p.E240K ABCC10_uc003ouz.1_Missense_Mutation_p.E197K NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 240 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGCCTGTGGAGAGCTCCGGCA 0.637 NaN 0 0 0 0.021553 0 5 56 SLC17A5 26503 broad.mit.edu 37 6 74345112 74345112 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:74345112C>G uc003phn.3 - 6 940 c.812G>C c.(811-813)AGA>ACA p.R271T SLC17A5_uc010kax.2_5'UTR|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.R140T NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 271 Missing (in ISSD). anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 TACCTGATTTCTTAATGATGA 0.274 NaN 0 0 0 0.013537 0 12 94 DOPEY1 23033 broad.mit.edu 37 6 83845382 83845382 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:83845382C>T uc003pjs.1 + 20 3175 c.2915C>T c.(2914-2916)TCT>TTT p.S972F DOPEY1_uc011dyy.1_Missense_Mutation_p.S963F|DOPEY1_uc010kbl.1_Missense_Mutation_p.S963F|DOPEY1_uc003pjt.2_5'Flank NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 972 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTCGATGGTTCTACTAGCTCT 0.393 NaN 0 0 0 0.020292 0 14 182 EZR 7430 broad.mit.edu 37 6 159191809 159191809 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:159191809C>G uc003qrt.3 - 9 1292 c.1077G>C c.(1075-1077)AAG>AAC p.K359N EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.K327N|EZR_uc003qru.3_Missense_Mutation_p.K359N NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 359 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TCTCTGCCTTCTTTGTCTTCT 0.567 NaN 0 0 0 0.008291 0 10 149 FOXK1 221937 broad.mit.edu 37 7 4794948 4794948 + Silent SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:4794948G>C uc003snc.1 + 4 994 c.984G>C c.(982-984)CTG>CTC p.L328L FOXK1_uc003sna.1_Silent_p.L165L|FOXK1_uc003snb.1_3'UTR NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 328 Fork-head. cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGCTGACCCTGAGCGGGATCT 0.642 NaN 0 0 0 0.001984 0 6 54 MLXIPL 51085 broad.mit.edu 37 7 73010266 73010266 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:73010266C>G uc003tyn.1 - 14 2140 c.2092G>C c.(2092-2094)GAG>CAG p.E698Q MLXIPL_uc003tyj.1_Missense_Mutation_p.E77Q|MLXIPL_uc003tyk.1_Intron|MLXIPL_uc003tyl.1_Missense_Mutation_p.E696Q|MLXIPL_uc003tym.1_Intron|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.E604Q NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 698 Helix-loop-helix motif. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) AGGATGTACTCAGCTGTCTTC 0.607 NaN 0 0 0 0.014758 0 4 26 KIAA1324L 222223 broad.mit.edu 37 7 86556202 86556202 + Missense_Mutation SNP T T G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:86556202T>G uc011kha.1 - 9 1305 c.1120A>C c.(1120-1122)AAA>CAA p.K374Q KIAA1324L_uc003uif.1_Missense_Mutation_p.K134Q|KIAA1324L_uc011kgz.1_Missense_Mutation_p.K260Q|KIAA1324L_uc003uie.2_Missense_Mutation_p.K207Q NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 374 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) CGGCAGATTTTGGGCTCTATC 0.378 NaN 0 0 0 0.014758 0 5 190 DBF4 10926 broad.mit.edu 37 7 87516657 87516657 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:87516657C>T uc003ujf.1 + 5 968 c.464C>T c.(463-465)TCA>TTA p.S155L DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 155 BRCT 2. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) TTTATTCCTTCAAATAGTATA 0.229 NaN 0 0 0 0.009096 0 4 36 SAMD9 54809 broad.mit.edu 37 7 92734318 92734318 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:92734318C>G uc003umf.2 - 3 1349 c.1093G>C c.(1093-1095)GAT>CAT p.D365H SAMD9_uc003umg.2_Missense_Mutation_p.D365H NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 365 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTTTTAAAATCTGCTTTAAAT 0.333 NaN 0 0 0 0.008291 0 9 188 EPHB4 2050 broad.mit.edu 37 7 100410820 100410820 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:100410820G>A uc003uwn.1 - 11 2258 c.1767C>T c.(1765-1767)GTC>GTT p.V589V EPHB4_uc003uwm.1_Silent_p.V496V|EPHB4_uc010lhj.1_Silent_p.V589V NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 589 Cytoplasmic (Potential). cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) GGTCGATGTAGACCTTAGTAC 0.507 NaN 0 0 0 0.009096 0 4 88 C7orf60 154743 broad.mit.edu 37 7 112472660 112472660 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:112472660C>G uc003vgo.1 - 4 671 c.544G>C c.(544-546)GAA>CAA p.E182Q C7orf60_uc011kms.1_Missense_Mutation_p.E208Q NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 182 ovary(2)|skin(1) 3 AGAAATTCTTCAAACTTCAGA 0.308 NaN 0 0 0 0.001984 0 6 133 NOS3 4846 broad.mit.edu 37 7 150698385 150698385 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:150698385G>C uc003wif.2 + 11 1596 c.1300G>C c.(1300-1302)GAG>CAG p.E434Q NOS3_uc011kuy.1_Missense_Mutation_p.E228Q|NOS3_uc011kuz.1_Missense_Mutation_p.E434Q|NOS3_uc011kva.1_Missense_Mutation_p.E434Q|NOS3_uc011kvb.1_Missense_Mutation_p.E434Q NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 434 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTGGAGAATGAGCAGAAGGC 0.612 NaN 0 0 0 0.00308 0 5 83 INSIG1 3638 broad.mit.edu 37 7 155094081 155094081 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:155094081C>T uc003wly.2 + 4 869 c.658C>T c.(658-660)CTA>TTA p.L220L INSIG1_uc011kvu.1_Silent_p.L68L|INSIG1_uc003wlz.2_Intron NM_005542 NP_005533 O15503 INSI1_HUMAN insulin induced gene 1 isoform 1 220 Helical; (Potential). cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATAGCTTTTCTAGCTACGCT 0.438 NaN 0 0 0 0.006214 0 9 107 EXTL3 2137 broad.mit.edu 37 8 28575593 28575593 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:28575593G>A uc003xgz.1 + 3 2610 c.2017G>A c.(2017-2019)GAG>AAG p.E673K NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 673 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TTATGAGCGGGAGGAAGTGCT 0.542 NaN 0 0 0 0.001984 0 7 97 TEX15 56154 broad.mit.edu 37 8 30702398 30702398 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:30702398C>G uc003xil.2 - 1 4136 c.4136G>C c.(4135-4137)AGA>ACA p.R1379T NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1379 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTCTTTTTCTCTACAGCTCTG 0.398 NaN 0 0 0 0.001984 0 6 174 WHSC1L1 54904 broad.mit.edu 37 8 38173473 38173473 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:38173473C>G uc003xli.2 - 10 2461 c.1943G>C c.(1942-1944)AGA>ACA p.R648T WHSC1L1_uc011lbm.1_Missense_Mutation_p.R648T|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R648T NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 648 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AGATGTGTCTCTGTATGCTGA 0.433 NaN T NUP98 AML 0 0 0 0.021553 0 6 166 RIMS2 9699 broad.mit.edu 37 8 104898276 104898276 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:104898276C>G uc003yls.2 + 2 1024 c.783C>G c.(781-783)CTC>CTG p.L261L RIMS2_uc003ylp.2_Silent_p.L483L|RIMS2_uc003ylw.2_Silent_p.L291L|RIMS2_uc003ylq.2_Silent_p.L291L|RIMS2_uc003ylr.2_Silent_p.L291L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 514 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATGATTCTCTCAGTTCAGACC 0.438 NaN HNSCC(12;0.0054) 0 0 0 0.00308 0 8 67 CDC14B 8555 broad.mit.edu 37 9 99301371 99301371 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr9:99301371C>T uc004awj.2 - 7 1068 c.616G>A c.(616-618)GAA>AAA p.E206K CDC14B_uc004awk.2_Missense_Mutation_p.E206K|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.E169K NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 206 Linker. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TCATAGTGTTCATATTCATCA 0.279 NaN 0 0 0 0.001984 0 7 91 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr9:137328351C>T uc004cfb.2 + 10 1442 c.1280C>T c.(1279-1281)TCC>TTC p.S427F RXRA_uc004cfc.1_Missense_Mutation_p.S330F NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607 NaN 0 0 0 0.021553 0 5 86 TPRN 286262 broad.mit.edu 37 9 140086816 140086816 + Silent SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr9:140086816G>T uc004clt.2 - 3 1785 c.1785C>A c.(1783-1785)GGC>GGA p.G595G TPRN_uc004clu.2_Silent_p.G595G NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 656 sensory perception of sound stereocilium 0 AGCTGGACAGGCCTGTGAATG 0.672 NaN 1 0 1.23904e-05 0.014758 1.36839e-05 5 23 SLC25A6 293 broad.mit.edu 37 X 1508489 1508489 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:1508489G>A uc004cpt.2 - 2 339 c.243C>T c.(241-243)TAC>TAT p.Y81Y SLC25A6_uc004cpu.2_RNA NM_001636 NP_001627 P12236 ADT3_HUMAN adenine nucleotide translocator 3 81 Solcar 1.|Helical; Name=2; (By similarity). active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) GAGTGGGGAAGTAGCGAATGA 0.567 NaN 0 0 0 0.010729 0 11 189 DDX53 168400 broad.mit.edu 37 X 23019978 23019978 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:23019978G>A uc004daj.2 + 1 1892 c.1804G>A c.(1804-1806)GAG>AAG p.E602K NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 602 nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 AGTAATGGCTGAGCAATACAA 0.383 NaN 0 0 0 0.009096 0 4 120 FAM47A 158724 broad.mit.edu 37 X 34149795 34149795 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:34149795G>A uc004ddg.2 - 1 634 c.601C>T c.(601-603)CCA>TCA p.P201S NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 201 Pro-rich. ovary(4)|central_nervous_system(1) 5 GGAGGCTCTGGGAGGAGATGG 0.617 NaN 0 0 0 0.004672 0 3 64 ZNF630 57232 broad.mit.edu 37 X 47918817 47918817 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:47918817C>G uc004div.3 - 5 1266 c.1014G>C c.(1012-1014)CAG>CAC p.Q338H ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.Q214H NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 338 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TATGGACTCTCTGATGAACAG 0.428 NaN 0 0 0 0.00308 0 8 123 WDR13 64743 broad.mit.edu 37 X 48460204 48460204 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:48460204G>A uc004dkh.1 + 7 1011 c.864G>A c.(862-864)ATG>ATA p.M288I WDR13_uc010nif.1_Missense_Mutation_p.M166I|WDR13_uc004dki.1_Missense_Mutation_p.M196I|WDR13_uc004dkj.1_Missense_Mutation_p.M288I|WDR13_uc004dkk.1_Missense_Mutation_p.M196I|WDR13_uc004dkl.3_Missense_Mutation_p.M196I NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 288 cytoplasm|nucleus ovary(2) 2 TGCATGTCATGAACATCTCCA 0.602 NaN 0 0 0 0.009096 0 3 32 USP51 158880 broad.mit.edu 37 X 55514287 55514287 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:55514287C>G uc004dun.1 - 2 1165 c.1086G>C c.(1084-1086)CTG>CTC p.L362L USP51_uc011moo.1_Silent_p.L66L NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 362 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 TTAGCCCTCTCAGGCCTACAG 0.403 NaN 0 0 0 0.020292 0 15 223 ATRX 546 broad.mit.edu 37 X 76939952 76939952 + Missense_Mutation SNP A A T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:76939952A>T uc004ecp.3 - 9 1028 c.796T>A c.(796-798)TAC>AAC p.Y266N ATRX_uc004ecq.3_Missense_Mutation_p.Y228N|ATRX_uc004eco.3_Missense_Mutation_p.Y51N|ATRX_uc004ecr.2_Missense_Mutation_p.Y227N|ATRX_uc010nlx.1_Missense_Mutation_p.Y266N|ATRX_uc010nly.1_Missense_Mutation_p.Y211N NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 266 ADD.|PHD-type; atypical. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TGACAAATGTAGCAATACCAT 0.388 NaN Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 0 0 0 0.001984 0 7 448 STAG2 10735 broad.mit.edu 37 X 123179197 123179197 + Nonsense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:123179197C>T uc004etz.3 + 7 985 c.646C>T c.(646-648)CGA>TGA p.R216* STAG2_uc004eua.2_Nonsense_Mutation_p.R216*|STAG2_uc004eub.2_Nonsense_Mutation_p.R216*|STAG2_uc004euc.2_Nonsense_Mutation_p.R216*|STAG2_uc004eud.2_Nonsense_Mutation_p.R216*|STAG2_uc004eue.2_Nonsense_Mutation_p.R216* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 216 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CAGAGCATTTCGACATACAAG 0.343 NaN 0 0 0 0.010504 0 20 335 F8 2157 broad.mit.edu 37 X 154197729 154197729 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:154197729G>A uc004fmt.2 - 7 1057 c.886C>T c.(886-888)CTT>TTT p.L296F NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 296 Plastocyanin-like 2.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCCTCACAAGAAATGTGTGA 0.463 NaN 0 0 0 0.028581 0 12 195 KDM6A 7403 broad.mit.edu 37 X 44938507 44938507 + Frame_Shift_Del DEL A A - TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 A - A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:44938507delA uc004dge.3 + 20 3430 c.3055delA c.(3055-3057)AAAfs p.K1019fs KDM6A_uc010nhk.2_Frame_Shift_Del_p.K985fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.K1071fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.K974fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.K1026fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.K723fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.K658fs NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1019 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TGGAACAAAGAAAATCTGGCA 0.398 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 7 106 --- ---